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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EYA4
(M1T)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
EYA4
(N72S)
Single nucleotide variant
(missense variant +1 more)
EYA4-related condition
+2 more
GUncertain significance
EYA4
(T78R)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
EYA4
(Y188C +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EYA4
(G277S +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
EYA4
(T289M +2 more)
Single nucleotide variant
(missense variant)
EYA4-related condition
+5 more
GConflicting classifications of pathogenicity
EYA4
(S296L +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EYA4
(G302D +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GBenign/Likely benign
EYA4
(P329R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
EYA4
(F326L +4 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
+3 more
GUncertain significance
EYA4
(D327N +4 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
+4 more
GConflicting classifications of pathogenicity
EYA4
(R345S +4 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 10
+4 more
GConflicting classifications of pathogenicity
EYA4, TARID
(G473V +4 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
EYA4, TARID
(I535V +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EYA4, TARID
(Y562C +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
EYA4, TARID
(R605Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
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